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Summary
D-GLYCERIC ACIDURA
D-GLYCERICACIDEMIA D-GLYCERATE KINASE DEFICIENCY
220120
OMIM = Online Medalian Inheritance of Men
941
3p21.2
rare
autosomal recessive
d-glycerate kinase deficiency (GK) is a benign disorder [Kalim A et al. 2017]
d-glycerate kinase deficiency (GK) does not cause nonketotic hyperglycinemia (NKH) [Swanson MA et al.2017]
symptoms
Amino acids, plasma
behavior, autism or autistic-like
encephalopathy
failure to thrive
hypotonia
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
motor retardation
no clinical signs or symptoms
onset, infancy
onset, neonatal
Organic acids, urine
psychomotor retardation
seizures
spastic diplegia/quadriplegia
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
D-Glyceric acid10000.0020000.000.009.00mmol/mol creatinineurine, serum, cerebrchild
Glycine800.001200.00230.00450.00-Ámol/lplasmanewborn
Glycine 210.00743.00increasedurinenewborn
Literature
Suzuki YSakuraba H, Oshima A+ƒ-Galactosidase deficiency (+ƒ-galactosidosis): GM1 Gangliosidosis and Morquio B diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2902785-28231995
Oyanagi KNagao MFamilial hyperlysinemia(alpha-aminoadipic semialdehyde synthase defect)Ryoikibetsu Shokogun Shirizu181188-1901998
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Engelke UFHWevers RAHandbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopySPS000
Dancis JHutzler J, Cox RPFamilial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminologyAm J Hum Genet313290-2991979
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Chace DHet al.Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns blod spots by tandem mass spectrometryClin Chem423349-3551996